My Journal - Week 74 (18Jan11)
Some of you may be aware of the talks regarding the newest and latest testing for Down syndrome which will be part of the new prenatal testing sometime in our near future. The new method of prenatal testing to genetically test for Down syndrome will eventually be conducted by a simple blood test of a pregnant woman. This testing is not the same as the current maternal serum screening or blood tests available now which check various hormone levels, alpha fetoprotein etc. in the triple, quad screen and IPS (Integrated prenatal screening) that give doctors an idea of whether there is risk or possible risk for Down syndrome. This new blood test will definitively tell doctors (or geneticists) if a fetus has Down syndrome with the same accuracy as an Amniocentesis or CVS procedure. The only difference is that this test is not invasive and will not carry the same known risk for loss (albeit small, less then 1/2 a percent) as Amniocentesis or CVS are known to have. The reason I am posting about this new procedure is because I was asked to participate and be involved in the study of this new blood testing procedure to identify Down syndrome by my genetics clinic. This request took place when I went in for my recent Amniocentesis on the 6th of January for my current pregnancy.
Now, I had many many questions to ask the doctor involved in running the study and she answered everything that she could. The obvious question of when the testing will officially be available here in Canada was not told to me but she did mention that science has literally already allowed them to identify what to test for by way of blood, and so it occurred to me that they (genetics) probably already can identify a "Down syndrome pregnancy" but are "fine tuning" the procedure and also the political side to the test such as who will be eligible to get the test, who will be able to request it (since it is a "simple" blood test), where it will be processed, and most importantly, who will pay for it - since the one thing that this doctor did advise me on was that the actual procedure for the analysis of the blood - is/will be a very costly testing procedure.
One thing about me, I am very pro medical science and the involvement to move it forward. So, knowing that, I wanted very much to participate BUT there was one issue that immediately came to my mind which nearly derailed me from participating in the study. The study only would require three vials of my blood which would be compared with my results from my Amniocentesis procedure sample taken. (They would not take any additional amniotic fluid, only my blood sample was required for the study.) My issue was not a sceptical one, it was not a fear of my DNA or identity being misused, it wasn't a doubt of the science for this actual new testing procedure. My issue surrounding my involvement in this study was an emotional concern.
I explained to this doctor that I understood currently, the statistic for termination of a fetus which was identified as having Down syndrome was 94%. This means, of the babies born with Down syndrome as a pre-diagnosis - only 6% of them are born to parents who have knowledge that they have Down syndrome. This statistic does not include babies born with Ds that are diagnosed at birth because no prenatal screening or testing was undertaken. In other more realistic words, more then 95% of the time, when a woman (or family) learns via Amniocentesis or CVS that their unborn baby has Down syndrome, the decision to terminate is made. Only 6% choose not to terminate and continue their pregnancy. What I wondered as I contemplated being part of this new medical prenatal testing procedure was, would this blood test now make it unequivocally easier to make the decision to terminate? From my perspective (confirmed through personal research and support), I know many women do not choose to undergo Amniocentesis for many reasons. Some of those reasons are, but not limited to: fear of potential loss of a pregnancy due to the slight chance of miscarriage from invasive testing; fear of the test itself (needles); inadequate or lack of prenatal testing altogether; or fear of an absolute answer or negative diagnosis; then there is the reality of availability (world wide); cost or inability to afford an amniocentesis; or even knowledge that the test exists. Knowing this, it's obvious many babies born with Ds are born to parents who had absolutely no idea that their baby even had Ds or that there was even a remote possibility that the baby had Ds. I challenged the doctor with my theory that - since this is true in many cases (which then account for the thousands of babies born locally and around the world every year with Down syndrome) outside of the lonely and sad statistic of the chosen 6%, are we (rightfully?) giving people an easier way to decide to terminate pregnancies that are diagnosed as positive for Down syndrome? While the obvious answer from the doctor was "yes", it will be easier to get a diagnosis, we can't change the decisions that people will make or suspect that people will make the decision to terminate. But I disagree with her entire answer. She is correct, the new blood test itself wont change the decisions people make, but given the data, it is obvious that it will be easier to make that decision. Let me be clear, I believe everyone has the right to decide about continuing their pregnancy - it is also law. But when I told the doctor that the test would simply allow MORE people to choose termination because the diagnosis would be easier to achieve (for all the reasons I listed above that stop people from getting (the currently available) definitive diagnosis via Amnio) she countered that there are services in place that would help to provide people with references and resources to help them make an informed decision. My jaw dropped. I explained that this is and was simply not true or was the case even currently! She was under the impression that someone provided a couple with all the information about Down syndrome which might help them decide if they should choose to terminate. Unfortunately, I learned this is not what happens. The genetics counsellors are pretty quiet about educating people about Down syndrome. It's debatable that all the information is anything more then clinical (text book information) and without being disrespectful to the genetics community here often the decision to educate the parents is left to the parent to ask for it, it wasn't offered. More over it seems that the information that can be given is only imparted after they know whether or not you are terminating or continuing the pregnancy. Which to me, defeats the purpose of making an informed decision! I get that it makes absolutely no financial sense (for any government) to spend time, money and or resources educating a parent(s) if they don't seem or want to continue the pregnancy. To the "bean counters", it's a waste of time/money. They therefore don't offer the education etc. unless the decision to continue pregnancy is made. And what about elsewhere - where counselling information isn't provided free, via health care, insurance or even available?? I guess they go without.
The doctor wasn't sure how to answer after that. I further mentioned that if she believed that appropriate counselling occurred immediately after a diagnosis, (instead of assuming that everyone would choose termination, which we can see purely by statistic why this assumption is made) to help with decision making, my question was, how would this be achieved, controlled or monitored if the test was able to be requisitioned by a pregnant woman's family physician or walk in clinic? After all, it will be a simple blood test. She admitted that the final details of where or how this test will administered, sent to for analysis or who/where could give the results obtained, had not yet been determined or better yet, if they would even discuss those things. (That wasn't her involvement in the study). Personally, I don't feel comfortable assuming that they will ever iron out those details or issues because frankly statistically 6% of peoples emotional concern is not enough. It's hard to argue that 6% matter if 94% normally choose termination. Currently even the professionals in my medical world still use the term "Downs" and are so undereducated about Down syndrome that I shudder to think how that number of 94% termination will dramatically rise - if that's even possible. That is the reality now. 94%, and that's currently after receiving the diagnosis from a "Genetics involved specialist" - since in North America most diagnoses for Ds are currently obtained through a genetics referred test - NOT a simple blood test.
So, at the end of the conversation what did I choose to do? I participated, mostly for one major reason alone. I, like the current 6% (who chose not to terminate after receiving a diagnosis of Down syndrome) wish that there was/were a less invasive way to get/confirm a diagnosis of Down syndrome with out risk or fear that I could be jeopardizing my pregnancy because the current (invasive) methods available do have potential risks for miscarriage - even if very slight. It would make absolutely no sense for an advocate, who wants to see that more people out there know or learn that Down syndrome is NOT the scary, stereotypical, negative thing, others think it is - to want to keep a potentially harmful test around that could reduce babies with Ds by inflicting potential loss. We want our children to flourish, not perish.
I suppose, ultimately the new test is bitter-sweet. In future, I will have an option available to me that will be less risky (to be able to confirm a baby has Ds) but it ends up making it easier for the other 94+% to decide on termination. Sadly, the doctor also advised me aside from being a participant in the process, I would not learn before the public when this does become a reality. So, like everyone else, I will have to find out when it becomes a reality be reading the news.